Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.

@article{Gibson2013ExomeAR,
  title={Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.},
  author={Jane Gibson and Rodney D Gilbert and David Bunyan and Elizabeth M. Angus and Darren J. Fowler and Sarah Ennis},
  journal={Genetics research},
  year={2013},
  volume={95 6},
  pages={165-73}
}
A girl aged 6 presented with haematuria and her sister (aged 5) presented with haematuria and proteinuria. Family history showed multiple individuals suffering from end stage renal failure from the paternal side of the pedigree. Following kidney biopsy in the father and paternal grandmother, the pathological diagnosis was of focal segmental glomerulosclerosis (FSGS). Exome sequencing was undertaken in the proband's sister and grandmother. Genetic variants shared by both affected individuals… CONTINUE READING

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